rs886043172
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 11 |
Position | 22270417 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs886043172 |
dbSNP (classic) | rs886043172 |
ClinGen | rs886043172 |
ebi | rs886043172 |
HLI | rs886043172 |
Exac | rs886043172 |
Gnomad | rs886043172 |
Varsome | rs886043172 |
LitVar | rs886043172 |
Map | rs886043172 |
PheGenI | rs886043172 |
Biobank | rs886043172 |
1000 genomes | rs886043172 |
hgdp | rs886043172 |
ensembl | rs886043172 |
geneview | rs886043172 |
scholar | rs886043172 |
rs886043172 | |
pharmgkb | rs886043172 |
gwascentral | rs886043172 |
openSNP | rs886043172 |
23andMe | rs886043172 |
SNPshot | rs886043172 |
SNPdbe | rs886043172 |
MSV3d | rs886043172 |
GWAS Ctlg | rs886043172 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043172(-;-) |
Alt | rs886043172(-;-) |
Reference | Rs886043172(G;G) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | ANO5 |
CLNDBN | Limb-girdle muscular dystrophy, type 2L |
Reversed | 0 |
HGVS | NC_000011.9:g.22291963delG |
CLNSRC | |
CLNACC | RCV000378746.1, |